Variant report

Variant	nsv1023055
Chromosome Location	chr6:65822968-65901628
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:65821523..65823761-chr6:65825584..65828218,2	MCF-7	breast:
2	chr6:65879743..65881792-chr6:65884642..65887053,2	MCF-7	breast:
3	chr6:65821770..65824951-chr6:65826871..65829970,3	K562	blood:
4	chr6:65821770..65824951-chr6:65826871..65829970,3	K562	blood:
5	chr6:65821523..65823761-chr6:65825584..65828218,2	MCF-7	breast:
6	chr6:65879743..65881792-chr6:65884642..65887053,2	MCF-7	breast:

Extended variants
information (count: 926 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:926 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs185114026	chr6:65822994-65822995	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs145153931	chr6:65823004-65823005	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs537864699	chr6:65823008-65823009	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs551332300	chr6:65823021-65823022	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs374249523	chr6:65823050-65823051	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs115807234	chr6:65823059-65823060	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs146886731	chr6:65823087-65823088	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs140662108	chr6:65823090-65823091	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs4305705	chr6:65823143-65823144	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs190308771	chr6:65823149-65823150	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs4501412	chr6:65823231-65823232	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs4549603	chr6:65823272-65823273	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs60670394	chr6:65823286-65823287	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs60772089	chr6:65823295-65823296	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs181989205	chr6:65823298-65823299	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs150466611	chr6:65823319-65823320	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs386702107	chr6:65823328-65823329	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs2350520	chr6:65823330-65823331	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs371382123	chr6:65823331-65823332	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs2350521	chr6:65823344-65823345	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs2882433	chr6:65823356-65823357	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs2882434	chr6:65823401-65823402	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs2350522	chr6:65823461-65823462	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs551492757	chr6:65823464-65823465	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs2882435	chr6:65823505-65823506	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs77466377	chr6:65823529-65823530	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs138276236	chr6:65823531-65823532	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs73765784	chr6:65823552-65823553	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs536862168	chr6:65823560-65823561	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs79624820	chr6:65823582-65823583	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs149151875	chr6:65823584-65823585	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs377063705	chr6:65823601-65823602	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs200184225	chr6:65823602-65823603	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs538977437	chr6:65823603-65823604	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs201754076	chr6:65823605-65823606	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs558731250	chr6:65823607-65823608	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs377745947	chr6:65823617-65823618	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs539829962	chr6:65823632-65823633	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs553845962	chr6:65823681-65823682	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs72879849	chr6:65823777-65823778	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs72879851	chr6:65823793-65823794	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs73765787	chr6:65823842-65823843	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs386702109	chr6:65823858-65823859	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs184931526	chr6:65823893-65823894	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs16880346	chr6:65823898-65823899	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs527702346	chr6:65823916-65823917	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs13198799	chr6:65823933-65823934	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs16880348	chr6:65823954-65823955	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs567766015	chr6:65823983-65823984	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs544534825	chr6:65826429-65826430	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

Disease	PMID	Source
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Biliary cancer	19435499	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Autism	22495311	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastric cancer	17908304	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Neuroblastoma	18923191	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Systemic lupus erythematosus	17503323	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Cancer	21637783	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	19010834	CNVD
Non-small cell lung cancer	21044232	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21385341	CNVD
Prostate cancer	16705090	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Ependymoma	16718352	CNVD
High-proliferative meningiomas	17937814	CNVD
Intracranial tumor	16823260	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	21364760	CNVD
Prostate cancer	16573809	CNVD
Ovarian cancer	19835627	CNVD
Myelofibrosis	22110671	CNVD
Cancer	21183584	CNVD
Glioblastoma multiforme	22286061	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16272173	CNVD
Developmental delay	21147756	CNVD
small cell lung cancer	20016488	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Epilepsy	20502679	CNVD
Dyslexia	22102821	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Urothelial carcinoma	18382360	CNVD
Ovarian neoplasms	16753589	CNVD
Hepatocellular carcinoma	16750200	CNVD
Schizophrenia	23813976	CNVD
Bipolar disorder	19114987	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:65822600-65823600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr6:65822600-65823800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr6:65823400-65824000	Enhancers	HUVEC	blood vessel
4	chr6:65826400-65826800	Enhancers	Placenta Amnion	Placenta Amnion
5	chr6:65826800-65827200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr6:65826800-65827200	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr6:65827200-65827400	Enhancers	Placenta Amnion	Placenta Amnion
8	chr6:65827400-65828200	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr6:65828000-65828600	Enhancers	Fetal Lung	lung
10	chr6:65828200-65828600	Enhancers	Placenta Amnion	Placenta Amnion
11	chr6:65833200-65833800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr6:65833400-65833800	Enhancers	Fetal Lung	lung
13	chr6:65833400-65834000	Enhancers	Primary hematopoietic stem cells short term culture	blood
14	chr6:65833400-65834000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr6:65833800-65834000	Enhancers	Fetal Stomach	stomach
16	chr6:65833800-65834800	Weak transcription	Fetal Lung	lung
17	chr6:65834600-65835000	Enhancers	Pancreatic Islets	Pancreatic Islet
18	chr6:65834800-65835000	Enhancers	Fetal Stomach	stomach
19	chr6:65834800-65836800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr6:65835000-65835200	Enhancers	Fetal Lung	lung
21	chr6:65836400-65836600	Enhancers	Fetal Stomach	stomach
22	chr6:65836600-65837000	Enhancers	iPS-15b Cell Line	embryonic stem cell
23	chr6:65856000-65856600	Enhancers	HUVEC	blood vessel
24	chr6:65857800-65859200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr6:65859600-65859800	Enhancers	Placenta Amnion	Placenta Amnion
26	chr6:65860000-65861400	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr6:65861000-65861400	Enhancers	Fetal Lung	lung
28	chr6:65861400-65862600	Enhancers	Placenta Amnion	Placenta Amnion
29	chr6:65862600-65865200	Weak transcription	Placenta Amnion	Placenta Amnion
30	chr6:65865200-65866800	Enhancers	Placenta Amnion	Placenta Amnion
31	chr6:65871000-65872200	Enhancers	Fetal Lung	lung
32	chr6:65871000-65872200	Enhancers	Fetal Stomach	stomach
33	chr6:65871600-65872200	Enhancers	HepG2	liver
34	chr6:65871800-65874800	Enhancers	Fetal Brain Male	brain
35	chr6:65872200-65872400	Enhancers	Fetal Brain Female	brain
36	chr6:65872400-65873400	Weak transcription	Fetal Brain Female	brain
37	chr6:65873400-65874400	Enhancers	Fetal Brain Female	brain
38	chr6:65887800-65888200	Active TSS	Aorta	Aorta
39	chr6:65888000-65888400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr6:65896400-65897200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr6:65899600-65900000	Enhancers	HUES64 Cell Line	embryonic stem cell
42	chr6:65899800-65901800	Enhancers	ES-I3 Cell Line	embryonic stem cell
43	chr6:65900000-65900400	Weak transcription	HUES64 Cell Line	embryonic stem cell
44	chr6:65900400-65901800	Enhancers	HUES64 Cell Line	embryonic stem cell
45	chr6:65900400-65902000	Enhancers	Brain Germinal Matrix	brain
46	chr6:65900600-65901800	Enhancers	H1 Cell Line	embryonic stem cell
47	chr6:65900600-65901800	Enhancers	HUES48 Cell Line	embryonic stem cell
48	chr6:65900600-65901800	Enhancers	iPS-20b Cell Line	embryonic stem cell
49	chr6:65900600-65902000	Enhancers	iPS-15b Cell Line	embryonic stem cell
50	chr6:65900600-65902000	Enhancers	iPS-18 Cell Line	embryonic stem cell

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